Canonical Allele Identifier: CA366530879

Gene: DNAAF5 PRKAR1B

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.727222C>G , CM000669.2:g.727222C>G	GRCh38
NC_000007.13:g.766859C>G , CM000669.1:g.766859C>G	GRCh37
NC_000007.12:g.733385C>G	NCBI36
NG_033137.1:g.5522C>G
NG_042811.1:g.5455G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001164760.2:c.-35G>C (PRKAR1B) MANE Select	NP_001158232.1:n.-35G>C
NM_017802.4:c.502C>G (DNAAF5) MANE Select	NP_060272.3:p.Leu168Val
ENST00000297440.11:c.502C>G (DNAAF5) MANE Select	ENSP00000297440.6:p.Leu168Val
ENST00000537384.6:c.-35G>C (PRKAR1B) MANE Select	ENSP00000440449.1:n.-35G>C
NM_001164758.1:c.-23+368G>C (PRKAR1B)	NP_001158230.1:n.-23+368G>C
NM_001164758.2:c.-23+368G>C (PRKAR1B)	NP_001158230.1:n.-23+368G>C
NM_001164759.1:c.-23+433G>C (PRKAR1B)	NP_001158231.1:n.-23+433G>C
NM_001164760.1:c.-35G>C (PRKAR1B)	NP_001158232.1:n.-35G>C
NM_017802.3:c.502C>G (DNAAF5)	NP_060272.3:p.Leu168Val
NR_075098.1:n.522C>G (DNAAF5)
NR_075098.2:n.524C>G (DNAAF5)
ENST00000297440.10:c.502C>G (DNAAF5)	ENSP00000297440.6:p.Leu168Val
ENST00000403562.5:c.-23+368G>C (PRKAR1B)	ENSP00000385349.1:n.-23+368G>C
ENST00000417852.5:c.-35G>C (PRKAR1B)	ENSP00000406670.1:n.-35G>C
ENST00000437419.5:c.4C>G (DNAAF5)
ENST00000488474.1:n.16G>C (PRKAR1B)
ENST00000537384.5:c.-35G>C (PRKAR1B)	ENSP00000440449.1:n.-35G>C
XM_024446813.1:c.502C>G (DNAAF5)	XP_024302581.1:p.Leu168Val